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Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 31260

Gene

GeneSubmissionsLast Updated
A2ML1213Jan 11, 2023
AAAS5Oct 13, 2022
AARS23Dec 14, 2022
AASS1Jan 11, 2023
ABCA179Jan 11, 2023
ABCA1212Jan 11, 2023
ABCA22Jul 29, 2022
ABCA44Sep 14, 2022
ABCA74Jul 29, 2022
ABCB1118Jan 11, 2023
ABCB426Jan 11, 2023
ABCC61Apr 19, 2022
ABCC8102Jan 11, 2023
ABCC954Oct 13, 2022
ABCD130Jan 11, 2023
ABCD413Jan 11, 2023
ABCG81Apr 19, 2022
ABHD14A-ACY11Apr 19, 2022
ABRAXAS176Jan 11, 2023
ACAD920Jan 11, 2023
ACADM53Jan 11, 2023
ACADSB2Dec 14, 2022
ACADVL58Dec 14, 2022
ACAN1Mar 11, 2022
ACAT122Jan 11, 2023
ACBD61Aug 30, 2022
ACD1May 12, 2022
ACE1Nov 10, 2022
ACER32Mar 6, 2020
ACOX12Jan 6, 2022
ACP51Dec 14, 2022
ACSF318Nov 10, 2022
ACSL45Dec 14, 2022
ACTA212Dec 21, 2021
ACTA2-AS13Nov 10, 2020
ACTB2Jul 29, 2022
ACTC130May 12, 2022
ACTL6B1Dec 14, 2022
ACTN253Dec 14, 2022
ACVRL14Aug 5, 2021
ACY11Apr 19, 2022
ACYP12Aug 30, 2022
ADA29Nov 10, 2022
ADA21Dec 2, 2020
ADAMTS132Dec 14, 2022
ADAMTS236Dec 14, 2022
ADAMTSL21Apr 29, 2020
ADAR1Dec 21, 2021
ADAT32Dec 31, 2020
ADCY52Jul 29, 2022
ADGRG61Jul 1, 2020
ADGRV129Jan 11, 2023
ADRA2B1Mar 6, 2020
AFF23Nov 10, 2022
AFF31Jan 11, 2023
AFF41Aug 6, 2020
AFG3L24Jan 11, 2023
AGA7Sep 14, 2022
AGA-DT1Jan 25, 2018
AGBL51Jan 11, 2023
AGL50Jan 11, 2023
AGPAT23Jul 15, 2022
AGPS5Jul 15, 2022
AGXT39Jan 11, 2023
AHDC11Dec 14, 2022
AHI116Jan 11, 2023
AICDA5Jul 9, 2020
AIFM13Sep 14, 2022
AIMP11Oct 13, 2022
AIPL110Jan 11, 2023
AIRE40Jan 11, 2023
AK29Sep 14, 2022
AKAP994Jan 11, 2023
AKT33Nov 10, 2022
ALDH18A11Nov 10, 2022
ALDH3A227Jan 11, 2023
ALDH5A13Sep 14, 2022
ALDH7A19Dec 14, 2022
ALDOB25Jan 11, 2023
ALG113Jul 29, 2022
ALG111Apr 19, 2022
ALG124Oct 13, 2022
ALG131Mar 6, 2020
ALG23Mar 11, 2022
ALG67Oct 13, 2022
ALK36Dec 14, 2022
ALMS1219Jan 11, 2023
ALOX12B10Jan 11, 2023
ALOXE36Jan 11, 2023
ALPK31Dec 14, 2022
ALPL58Jan 11, 2023
ALS22Apr 19, 2022
ALX11Jan 11, 2023
ALX41Jul 15, 2022
AMER11Dec 14, 2022
AMPD11Oct 13, 2022
AMPD24Dec 14, 2022
AMT15Jul 15, 2022
ANG1Sep 14, 2022
ANGPT21Mar 11, 2022
ANK2116Jan 11, 2023
ANK31Apr 7, 2021
ANKRD111Jan 25, 2018
ANKRD115Jul 29, 2022
ANKRD261Jul 15, 2022
ANO101Nov 10, 2022
ANO31Jan 11, 2023
ANO53Nov 10, 2022
ANOS11Oct 6, 2020
ANTXR26Jul 15, 2022
AOPEP46Jan 11, 2023
AP3B18Jan 11, 2023
AP3D13Jul 15, 2022
AP4B13Jan 11, 2023
AP4B1-AS11Jan 11, 2023
AP4E12Oct 13, 2022
AP4M13Oct 13, 2022
AP5Z11Dec 14, 2022
APBB12Sep 24, 2019
APC557Jan 11, 2023
APIP1Dec 21, 2021
APOA111Dec 14, 2022
APOA1-AS7Feb 9, 2022
APOA212Aug 30, 2022
APOA58Jan 25, 2018
APOB19Jan 11, 2023
APOC37Oct 13, 2022
APP1Feb 9, 2022
APPL11Aug 5, 2021
AQP26Nov 17, 2015
AQP5-AS15Nov 17, 2015
AR1Oct 13, 2022
ARFGEF11Dec 14, 2022
ARG13Nov 10, 2022
ARHGEF92Jul 15, 2022
ARID1A3Aug 30, 2022
ARID1B3Jan 11, 2023
ARL13B9Nov 10, 2022
ARL64Dec 14, 2022
ARMC91Oct 13, 2022
ARSA53Jan 11, 2023
ARSB27Jan 11, 2023
ARSL2Apr 7, 2021
ARX4Feb 9, 2022
ASAH12Jan 11, 2023
ASB111Sep 9, 2020
ASH1L3Jan 11, 2023
ASL26Jan 11, 2023
ASNS9Jan 11, 2023
ASPA29Jan 11, 2023
ASPH1Dec 21, 2021
ASPM4Nov 10, 2022
ASS134Jan 11, 2023
ASTN24Jan 11, 2023
ASXL16Oct 13, 2022
ASXL21Oct 13, 2022
ASXL33Dec 14, 2022
ATL11Mar 6, 2020
ATL31Aug 30, 2022
ATM843Jan 11, 2023
ATN11Apr 29, 2020
ATP13A28Jan 11, 2023
ATP1A11Aug 30, 2022
ATP1A23Dec 14, 2022
ATP1A33Dec 14, 2022
ATP1B111Oct 13, 2022
ATP2A12Jul 15, 2022
ATP2B32Jan 11, 2023
ATP5MK1Oct 6, 2020
ATP6AP11Sep 14, 2022
ATP6AP22Jul 29, 2022
ATP6V0A26Jul 15, 2022
ATP6V0A49Jul 29, 2022
ATP6V1A2Jul 15, 2022
ATP6V1B19Dec 14, 2022
ATP6V1B1-AS11Apr 19, 2022
ATP7A8Sep 14, 2022
ATP7B288Jan 11, 2023
ATP8A24Dec 14, 2022
ATP8B117Jan 11, 2023
ATP8B1-AS13Jul 15, 2022
ATR11Jan 25, 2018
ATRIP3Aug 30, 2022
ATRIP-TREX13Aug 30, 2022
ATRX13Jan 11, 2023
AUTS21Sep 14, 2022
AVIL1Dec 31, 2020
AVPR221Jan 11, 2023
AXDND111Nov 10, 2022
AXIN249Dec 14, 2022
B3GLCT2Jul 15, 2022
B4GALT11May 12, 2022
B9D13Jul 15, 2022
B9D24Jul 15, 2022
BAG334Jan 11, 2023
BARD1186Jan 11, 2023
BBS125Oct 13, 2022
BBS1029Nov 10, 2022
BBS129Aug 30, 2022
BBS233Jan 11, 2023
BBS47Dec 14, 2022
BBS56Dec 14, 2022
BBS74Jul 15, 2022
BBS96Nov 10, 2022
BCHE18Jan 11, 2023
BCKDHA21Jan 11, 2023
BCKDHB30Jul 29, 2022
BCL11A2Jul 29, 2022
BCL2L2-PABPN11Dec 14, 2022
BCOR2Jan 11, 2023
BCORL14May 12, 2022
BCS1L10Dec 14, 2022
BICD21Sep 14, 2022
BIVM-ERCC519Jan 11, 2023
BLK5Oct 13, 2022
BLM82Jan 11, 2023
BLOC1S31Jul 15, 2022
BLOC1S62Oct 13, 2022
BLTP11Sep 14, 2022
BMP12Mar 11, 2022
BMP41Sep 14, 2022
BMPR1A75Dec 14, 2022
BRAF105Jan 11, 2023
BRCA11359Jan 11, 2023
BRCA22355Jan 11, 2023
BRIP1245Jan 11, 2023
BRPF13May 12, 2022
BSND9Dec 14, 2022
BTD35Jan 11, 2023
BTK40Jul 29, 2022
BUB1B1Jan 11, 2023
BUB1B-PAK61Jan 11, 2023
BVES1Nov 10, 2022
C10orf1053Jul 15, 2022
C10orf551Oct 13, 2022
C11orf65308Jan 11, 2023
C12orf291Nov 10, 2022
C12orf433Oct 13, 2022
C12orf571Oct 13, 2022
C17orf1072Jul 15, 2022
C19orf125Jul 29, 2022
C1R1Dec 14, 2022
C1S1Oct 13, 2022
C2CD31Jan 11, 2023
C31Mar 11, 2022
C51Aug 5, 2021
CA5A1Sep 14, 2022
CACNA1A8Jan 11, 2023
CACNA1B2May 12, 2022
CACNA1C79Dec 14, 2022
CACNA1C-AS133Dec 14, 2022
CACNA1C-AS22Apr 7, 2021
CACNA1D3Apr 19, 2022
CACNA1E4Dec 14, 2022
CACNA1G3Jan 11, 2023
CACNA1H5Jan 11, 2023
CACNA1S11Dec 14, 2022
CACNB226Jan 11, 2023
CACNG21Apr 29, 2020
CAD16Oct 13, 2022
CALCR1Jul 7, 2021
CALR311Jan 25, 2018
CAMK2A1Sep 14, 2022
CAMK2B3Nov 10, 2022
CAMK41Jul 1, 2020
CAMTA12Jan 11, 2023
CAPN336Jan 11, 2023
CARD141Jan 25, 2018
CASD11Dec 14, 2022
CASK1Jul 15, 2022
CASP145Nov 10, 2022
CASQ218Oct 13, 2022
CASR84Dec 14, 2022
CATIP-AS23Oct 13, 2022
CAV318Jan 11, 2023
CBL89Jan 11, 2023
CBS61Jan 11, 2023
CC2D1A3Jan 11, 2023
CC2D2A3Dec 14, 2022
CCBE11Mar 6, 2020
CCDC1071Mar 6, 2020
CCDC221Aug 30, 2022
CCDC401Jan 25, 2018
CCDC85Aug 30, 2022
CCDC88C2Jan 11, 2023
CCN65Dec 14, 2022
CD2471Aug 30, 2022
CD3D1Aug 18, 2011
CD3E8Mar 11, 2022
CD3G6Sep 14, 2022
CD409Nov 10, 2022
CD40LG10Nov 10, 2020
CD463Oct 13, 2022
CD8A2Jul 15, 2022
CDC421Jan 11, 2023
CDC42BPB1Oct 13, 2022
CDC737May 12, 2022
CDCA72Nov 10, 2022
CDH1232Jan 11, 2023
CDH21Nov 10, 2022
CDH2351Jan 11, 2023
CDH23-AS11Jan 6, 2022
CDK133Nov 10, 2022
CDK446Jan 11, 2023
CDK5RAP11Mar 6, 2020
CDK5RAP24Sep 14, 2022
CDKL52Oct 13, 2022
CDKN2A64Jan 11, 2023
CDKN2A-DT1Feb 9, 2021
CEACAM161Jul 29, 2022
CEL2Apr 29, 2020
CENPF3Feb 9, 2022
CEP10412Jan 11, 2023
CEP1642Jan 11, 2023
CEP29044Jan 11, 2023
CEP85L1Mar 6, 2020
CERKL8Dec 14, 2022
CERS33Jul 15, 2022
CERS3-AS11Jan 6, 2022
CERT12Dec 14, 2022
CFAP4181Apr 29, 2020
CFAP926Jan 11, 2023
CFB1Jan 11, 2023
CFH2Jul 15, 2022
CFHR21Aug 5, 2021
CFHR34Dec 14, 2022
CFHR42Dec 14, 2022
CFHR53Feb 9, 2022
CFI1Aug 5, 2021
CFTR822Jan 11, 2023
CFTR-AS179Nov 10, 2022
CHAMP11Feb 26, 2021
CHAT13Jan 11, 2023
CHCHD101May 12, 2022
CHCHD21Oct 13, 2022
CHD11Nov 10, 2022
CHD23Nov 10, 2022
CHD34Jan 11, 2023
CHD42Dec 14, 2022
CHD724Jul 29, 2022
CHD82Sep 1, 2021
CHEK13Jan 25, 2018
CHEK2199Jan 11, 2023
CHMP1A1Jan 6, 2022
CHMP2B1Sep 14, 2022
CHPT13Feb 26, 2021
CHRNA12Jul 15, 2022
CHRNA42Mar 11, 2022
CHRNB11Nov 10, 2022
CHRNE3Jul 15, 2022
CHRNG7Dec 14, 2022
CHST142Oct 22, 2021
CIB22Nov 10, 2022
CIC5Aug 30, 2022
CIITA3Jul 15, 2022
CLASP11Jul 29, 2022
CLCF12Jul 15, 2022
CLCN14Aug 30, 2022
CLCN23Jan 11, 2023
CLCN42Oct 13, 2022
CLCN51Mar 11, 2022
CLCN71May 13, 2020
CLCNKA2Jan 6, 2022
CLCNKB5Jan 6, 2022
CLDN141Jul 29, 2022
CLDN14-AS11Jul 29, 2022
CLIC21Jul 29, 2022
CLN321Sep 14, 2022
CLN517Oct 13, 2022
CLN610Jan 11, 2023
CLN89Nov 10, 2022
CLP11Dec 14, 2022
CLRN18Dec 14, 2022
CLRN1-AS11Jan 25, 2018
CNGA31Sep 14, 2022
CNKSR21Aug 5, 2021
CNOT13Dec 14, 2022
CNOT21Jul 15, 2022
CNTN21Dec 31, 2020
CNTN41Nov 10, 2022
CNTN61Sep 14, 2022
CNTNAP12Aug 30, 2022
CNTNAP26Jul 29, 2022
CNTNAP51Nov 10, 2020
COASY5Oct 13, 2022
COBL1May 13, 2020
COG51Jul 29, 2022
COG61Feb 9, 2022
COG81Mar 11, 2022
COL10A11Nov 10, 2022
COL11A14May 12, 2022
COL11A22Oct 13, 2022
COL12A14Jul 29, 2022
COL18A11Dec 14, 2022
COL1A143Dec 14, 2022
COL1A236Oct 13, 2022
COL2A15Jul 29, 2022
COL3A1102Jan 11, 2023
COL4A12Dec 14, 2022
COL4A25Jan 11, 2023
COL4A2-AS11Apr 19, 2022
COL4A2-AS21Apr 19, 2022
COL4A359Dec 14, 2022
COL4A42Sep 14, 2022
COL4A517Jan 11, 2023
COL4A62Jan 11, 2023
COL5A124Jan 11, 2023
COL5A216Jan 11, 2023
COL6A16Dec 14, 2022
COL6A23Dec 14, 2022
COL6A36Jan 11, 2023
COL7A15Oct 13, 2022
COL8A21Sep 14, 2022
COL9A13Sep 14, 2022
COL9A21Jul 1, 2020
COL9A32Mar 11, 2022
COLQ7Dec 14, 2022
COMP1Nov 10, 2022
COPA1May 12, 2022
COQ22Nov 10, 2022
COQ91May 22, 2020
CORO1A2Aug 30, 2022
COX101Apr 19, 2022
COX159Dec 14, 2022
COX201Sep 14, 2022
CP9Jan 11, 2023
CPLANE119Jan 11, 2023
CPS138Dec 14, 2022
CPT1A3Oct 13, 2022
CPT231Jan 11, 2023
CRB21Dec 31, 2020
CRBN1Mar 6, 2020
CREBBP3Sep 14, 2022
CRIPT1Aug 30, 2022
CRLF15Nov 10, 2022
CRTAP3Dec 14, 2022
CRYAB1Dec 14, 2022
CRYBA41Oct 6, 2020
CRYBB11Oct 6, 2020
CSDE11Apr 19, 2022
CSF1R2Dec 14, 2022
CSF2RA2Mar 6, 2020
CSNK2B2Jan 11, 2023
CSRP39Sep 14, 2022
CSTB1Oct 13, 2022
CTC11Jul 15, 2022
CTCF3Oct 13, 2022
CTF17Jul 29, 2022
CTNS35Jan 11, 2023
CTNS-AS116Jan 11, 2023
CTSA10Jan 6, 2022
CTSB1Dec 31, 2020
CTSD3May 12, 2022
CTSF10Jan 11, 2023
CTSK3Oct 13, 2022
CTXN2-AS14Jan 11, 2023
CUL31Oct 13, 2022
CUL710Jan 11, 2023
CUX14Oct 13, 2022
CUX22Sep 14, 2022
CYB5R31Sep 14, 2022
CYBA8Nov 10, 2022
CYBB31Nov 10, 2022
CYFIP22Dec 14, 2022
CYGB1Mar 11, 2022
CYP11B127Jan 11, 2023
CYP17A19Oct 13, 2022
CYP17A1-AS12Sep 14, 2022
CYP1B125Jan 11, 2023
CYP21A220Nov 10, 2022
CYP24A12Jan 11, 2023
CYP27A122Dec 14, 2022
CYP27B11Nov 10, 2022
CYP2U11Oct 13, 2022
CYP2U1-AS11Oct 13, 2022
CYP4F227Jan 11, 2023
CYP7B13Oct 13, 2022
CZ1P-ASNS9Jan 11, 2023
D2HGDH2Sep 14, 2022
DARS22Aug 30, 2022
DBNL1Dec 14, 2022
DBT11Jan 11, 2023
DCAF174Aug 30, 2022
DCAF81Dec 14, 2022
DCLRE1B1Mar 6, 2020
DCLRE1C9Jul 29, 2022
DCPS3Apr 19, 2022
DDC5Apr 19, 2022
DDC-AS11Apr 19, 2022
DDHD21Jul 15, 2022
DDR21Aug 30, 2022
DDX3X4Oct 13, 2022
DDX62Oct 13, 2022
DEAF14Jan 11, 2023
DENND5A1Jan 11, 2023
DEPDC53Sep 14, 2022
DES24Dec 14, 2022
DES-LCR1Nov 10, 2020
DGKE3Aug 5, 2021
DHCR241Jan 11, 2023
DHCR770Jan 11, 2023
DHDDS5Oct 13, 2022
DHTKD11Jul 29, 2022
DIAPH11Dec 2, 2020
DICER11Apr 29, 2020
DKC11May 12, 2022
DLAT4Jul 15, 2022
DLD7Nov 10, 2022
DLG31Jul 15, 2022
DLG43Nov 10, 2022
DLL13Jan 11, 2023
DLL31Apr 24, 2019
DLL41Oct 6, 2020
DMD259Jan 11, 2023
DMPK1Jan 11, 2023
DNA23Dec 14, 2022
DNAAF32Jan 6, 2022
DNAAF3-AS11Jan 6, 2022
DNAH72Mar 6, 2020
DNAH91Oct 13, 2022
DNAJB61Mar 11, 2022
DNAJC194Nov 10, 2022
DNASE1L11Aug 18, 2011
DNMT11Dec 14, 2022
DNMT3B3Jan 11, 2023
DOCK32Sep 9, 2020
DOCK73Oct 13, 2022
DOCK820Jan 11, 2023
DOCK8-AS12Mar 11, 2022
DOK714Jan 11, 2023
DONSON1May 12, 2022
DOP1A1Jul 15, 2022
DPAGT11Dec 21, 2021
DPM21Nov 10, 2020
DPP62Oct 13, 2022
DPYD47Jan 11, 2023
DPYD-AS17Dec 14, 2022
DSC264Nov 10, 2022
DSCAS1Sep 9, 2020
DSG262Dec 14, 2022
DSG2-AS120Sep 14, 2022
DSP159Jan 11, 2023
DSP-AS16Mar 11, 2022
DSPP1Jan 11, 2023
DTNA32Nov 10, 2022
DTNBP15Aug 30, 2022
DUOX24Feb 9, 2022
DYM1Nov 10, 2022
DYNC1H12Apr 19, 2022
DYNC2H14Nov 10, 2022
DYRK1A6Apr 27, 2021
DYSF37Jan 11, 2023
EARS21Jul 29, 2022
EBF31Jul 15, 2022
ECHS11Jul 29, 2022
EDA1Mar 11, 2022
EDNRB1Mar 6, 2020
EDNRB-AS11Mar 6, 2020
EEF1A22Apr 19, 2022
EEF21Mar 11, 2022
EEF2KMT3Jul 15, 2022
EFEMP27Sep 14, 2022
EFHC11Mar 6, 2020
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EFTUD21May 12, 2022
EGF1Apr 19, 2022
EGILA1Sep 14, 2022
EGR21Mar 11, 2022
EHMT13Sep 14, 2022
EIF2AK11Nov 10, 2022
EIF2AK21Aug 30, 2022
EIF2B14Sep 14, 2022
EIF2B23Dec 14, 2022
EIF2B34Jul 15, 2022
EIF2B44Oct 13, 2022
EIF2B53Nov 10, 2022
ELMOD31Oct 13, 2022
ELN2Jun 17, 2021
ELOVL41Nov 10, 2022
ELOVL51Aug 30, 2022
ELP126Oct 13, 2022
ELP21Apr 19, 2022
EMC11Mar 11, 2022
EMD17Dec 14, 2022
EME21Sep 14, 2022
ENG4Aug 5, 2021
EP3004Dec 14, 2022
EP4001Feb 9, 2021
EPB41L11Jan 11, 2023
EPCAM8Jan 11, 2023
EPHA31Feb 26, 2021
ERBB41Oct 13, 2022
ERCC217Jan 11, 2023
ERCC36Nov 10, 2022
ERCC49Nov 10, 2022
ERCC519Jan 11, 2023
ERCC624Dec 14, 2022
ERCC6-PGBD34Jul 15, 2022
ERCC86Jan 11, 2023
ERCC8-AS11Jan 11, 2023
ERMARD2Jul 15, 2022
ETFA4Aug 30, 2022
ETFB3Dec 14, 2022
ETFDH18Dec 14, 2022
ETHE113Jan 11, 2023
EVC22Nov 10, 2022
EXOSC38Jan 11, 2023
EXOSC91Nov 10, 2022
EXT11Apr 24, 2019
EXT21Mar 11, 2022
EYA427Sep 14, 2022
EYS50Jan 11, 2023
F13A15Dec 14, 2022
F97Dec 14, 2022
FA2H7Nov 10, 2022
FAH20Sep 14, 2022
FAM111A1Jul 29, 2022
FAM111B1Nov 16, 2021
FAM161A6Sep 14, 2022
FAM20A5Jan 11, 2023
FANCA44Jan 11, 2023
FANCB4Jul 15, 2022
FANCC71Jan 11, 2023
FANCD216Oct 13, 2022
FANCD2OS3Aug 30, 2022
FANCE4Jul 15, 2022
FANCF6Sep 14, 2022
FANCG4Sep 14, 2022
FANCI10Jan 11, 2023
FANCL10Oct 13, 2022
FASTKD21Oct 13, 2022
FAT21Jan 11, 2023
FAT44Apr 19, 2022
FBLIM11Oct 13, 2022
FBN1574Jan 11, 2023
FBN219Jan 11, 2023
FBXL313Oct 13, 2022
FBXL43Jul 29, 2022
FBXW111Apr 19, 2022
FCN31Nov 10, 2020
FCSK5Sep 14, 2022
FECH2Jul 15, 2022
FERMT32Jan 11, 2023
FGA4Dec 14, 2022
FGB2Mar 11, 2022
FGD12Apr 29, 2020
FGD42Jan 11, 2023
FGF141Nov 10, 2022
FGF232Aug 18, 2011
FGF31Apr 19, 2022
FGFR14Jan 11, 2023
FGFR33Jan 11, 2023
FGG2Feb 9, 2022
FH13Dec 14, 2022
FHL14Sep 14, 2022
FIG41Jul 15, 2022
FKBP104Aug 30, 2022
FKRP12Jan 11, 2023
FKTN33Jan 11, 2023
FLAD11Oct 13, 2022
FLCN20Aug 30, 2022
FLG2Feb 9, 2022
FLNA3Dec 14, 2022
FLNB5Dec 14, 2022
FLNC8Nov 10, 2022
FLNC-AS13Nov 10, 2022
FLT42Feb 26, 2021
FLVCR11Sep 14, 2022
FOXG11Jul 29, 2022
FOXN13Jul 15, 2022
FOXP14Jan 11, 2023
FOXP21Apr 24, 2019
FOXP37Nov 10, 2022
FOXRED18Dec 14, 2022
FRAS127Jan 11, 2023
FREM215Jan 11, 2023
FRMPD44Aug 30, 2022
FTCD1Oct 22, 2021
FTL1Sep 14, 2022
FUCA112Jul 29, 2022
FXN1Nov 10, 2022
G6PC130Jan 11, 2023
G6PD5Jan 11, 2023
GAA201Jan 11, 2023
GABBR22Apr 19, 2022
GABRA51Dec 21, 2021
GABRG22Dec 14, 2022
GABRQ1Apr 29, 2020
GAL3ST41Nov 10, 2020
GALC63Jan 11, 2023
GALE7Jan 11, 2023
GALK19Sep 14, 2022
GALNS49Jan 11, 2023
GALT144Jan 25, 2023
GAMT20Nov 10, 2022
GAREM217Oct 13, 2022
GATA31Jul 29, 2022
GATA42Aug 30, 2022
GATA51Jan 11, 2023
GATA61Dec 14, 2022
GATAD112Nov 10, 2022
GATAD2B2Nov 10, 2022
GATM2Jan 6, 2022
GBA187Dec 14, 2022
GBA22Dec 31, 2020
GBE117Jan 11, 2023
GCDH44Jan 11, 2023
GCH12Aug 30, 2022
GCK143Jan 11, 2023
GDF52Nov 10, 2022
GDF5-AS11Nov 10, 2022
GDI14Jul 15, 2022
GEMIN42Sep 14, 2022
GEMIN52Aug 5, 2021
GFAP4Jan 11, 2023
GFI11Jun 17, 2021
GFI1B1Oct 13, 2022
GFPT18Dec 14, 2022
GH-LCR3Jan 11, 2023
GH12Jan 11, 2023
GHR2Sep 14, 2022
GHRHR4Aug 18, 2011
GINS32Mar 6, 2020
GJA12Dec 14, 2022
GJB11Jan 25, 2018
GJB2125Jan 11, 2023
GJB31Dec 14, 2022
GJB65Oct 13, 2022
GJC21Oct 13, 2022
GJD2-DT30May 12, 2022
GLA183Jan 11, 2023
GLB134Sep 14, 2022
GLDC42Dec 14, 2022
GLI11Apr 29, 2020
GLI24Nov 10, 2022
GLRB2Dec 14, 2022
GLUD11Sep 14, 2022
GLYCTK2Jan 11, 2023
GML17Oct 18, 2019
GNAI31Apr 29, 2020
GNB52Nov 10, 2022
GNE16Jan 11, 2023
GNPAT3Dec 14, 2022
GNPTAB48Jan 11, 2023
GNS2Oct 13, 2022
GORAB1Jul 29, 2022
GP1BA4Dec 14, 2022
GP62Jul 29, 2022
GP92Jul 15, 2022
GPAA12Oct 13, 2022
GPC37Oct 22, 2021
GPD1L11Dec 14, 2022
GPHN8Jan 11, 2023
GREB1L1Apr 29, 2020
GRHPR10Oct 13, 2022
GRIA42Jul 15, 2022
GRID22Nov 10, 2022
GRIN13Jan 11, 2023
GRIN2A3Sep 14, 2022
GRIN2B3Oct 13, 2022
GRIN2D3Nov 10, 2022
GRIP16Jan 11, 2023
GRM11Jan 11, 2023
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LRP58Oct 13, 2022
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LRRK21Jan 6, 2022
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NF29Mar 11, 2022
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NHEJ13Aug 30, 2022
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NIPBL2May 12, 2022
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NKX2-11Mar 6, 2020
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NLGN33Jul 29, 2022
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NME71Nov 20, 2015
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NOG1Mar 6, 2020
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NONO3Dec 14, 2022
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NOTCH12Oct 13, 2022
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NOTCH35Jan 11, 2023
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PCNT2Aug 30, 2022
PCSK51Apr 19, 2022
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PDCD22Jul 15, 2022
PDE11A1Feb 9, 2022
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PDHA18Dec 14, 2022
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PDX118Nov 10, 2022
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PGM33Jul 15, 2022
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PHF81May 13, 2020
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PHIP3Jan 11, 2023
PHKA14Jan 11, 2023
PHKA29Dec 14, 2022
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PHKG23Jul 15, 2022
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POLH9Jan 11, 2023
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PON213Oct 13, 2022
POR10Dec 14, 2022
POT11Dec 14, 2022
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PPIB3Nov 10, 2022
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PPT119Sep 14, 2022
PRCD1Mar 11, 2022
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PRDM55Aug 30, 2022
PRF128Nov 10, 2022
PRKAG230Jul 15, 2022
PRKAR1A51Jan 11, 2023
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PRKDC10Aug 30, 2022
PRKN2Jan 11, 2023
PRMT71Jul 1, 2020
PRNP2Dec 14, 2022
PRODH1May 12, 2022
PROKR25Jan 11, 2023
PROP14Aug 18, 2011
PRR121Oct 13, 2022
PRRT21Sep 14, 2022
PRSS155Dec 14, 2022
PSAP3Jan 11, 2023
PSEN16Nov 10, 2022
PSEN21Dec 14, 2022
PSMB81Oct 13, 2022
PSMD121Jul 15, 2022
PTCD32May 12, 2022
PTCH135Jan 11, 2023
PTCHD12Mar 11, 2022
PTCHD1-AS3May 12, 2022
PTEN99Jan 11, 2023
PTHLH1Aug 5, 2021
PTPN11127Nov 10, 2022
PTPN232Oct 13, 2022
PTPRC4Aug 30, 2022
PTS6Jan 11, 2023
PUF601Nov 16, 2021
PUM12Jul 29, 2022
PURA1Mar 6, 2020
PUS13Dec 14, 2022
PUS33Jul 15, 2022
PUS71Sep 14, 2022
PYCR19Jan 11, 2023
PYGM24Dec 14, 2022
QDPR5Jan 11, 2023
QRICH11Dec 14, 2022
RAB234Oct 13, 2022
RAB27A2Sep 14, 2022
RAB33A3Sep 14, 2022
RAB3GAP21Nov 10, 2022
RAC11Oct 13, 2022
RAD211Nov 10, 2020
RAD5088Jan 11, 2023
RAD51C102Nov 10, 2022
RAD51D97Jan 11, 2023
RAD51L3-RFFL96Jan 11, 2023
RAF182Dec 14, 2022
RAG124Nov 10, 2022
RAG215Aug 30, 2022
RAI12Sep 14, 2022
RANBP23Jan 11, 2023
RAPSN6Oct 13, 2022
RARS218Jan 11, 2023
RASA273Dec 14, 2022
RASGRP11May 12, 2022
RB124Dec 14, 2022
RBM101Aug 30, 2022
RBM2047Jan 11, 2023
RBM8A1Sep 14, 2022
RD31Jan 6, 2022
RDH128Jan 11, 2023
RECQL45Jan 11, 2023
RELN7Dec 14, 2022
RERE5Jan 11, 2023
REST1Dec 14, 2022
RET50Dec 14, 2022
RFX58Dec 14, 2022
RFXANK3Nov 10, 2022
RFXAP3Aug 30, 2022
RIF148Jan 11, 2023
RIGI1May 12, 2022
RIMS11Nov 10, 2020
RIT128Dec 14, 2022
RLBP17Oct 13, 2022
RMND11Jul 29, 2022
RMRP71Jan 11, 2023
RNASE41Sep 14, 2022
RNASEH2A3Sep 14, 2022
RNASEH2B5Dec 14, 2022
RNASEH2C2Jul 15, 2022
RNU4ATAC1Jul 29, 2022
ROGDI1Dec 14, 2022
ROR21Sep 14, 2022
RORA1Sep 14, 2022
RORA-AS11Sep 14, 2022
RP26Aug 30, 2022
RPE6514Jan 11, 2023
RPGR4Aug 30, 2022
RPGRIP119Dec 14, 2022
RPGRIP1L14Jan 11, 2023
RPH3A1Mar 6, 2020
RPIA3May 12, 2022
RPL271Dec 14, 2022
RPL36A-HNRNPH2184Jan 11, 2023
RPS6KA33Aug 30, 2022
RRAS44Dec 14, 2022
RTEL116May 12, 2022
RTEL1-TNFRSF6B16May 12, 2022
RTN22Jul 29, 2022
RUNX21Mar 6, 2020
RYR133Jan 11, 2023
RYR2272Jan 11, 2023
SACS47Jan 11, 2023
SAMD9L1Dec 14, 2022
SAMHD18Jan 11, 2023
SARM12Dec 14, 2022
SBF13Sep 14, 2022
SCAMP42Dec 31, 2020
SCN10A3Apr 19, 2022
SCN11A2Nov 10, 2022
SCN1A47Dec 14, 2022
SCN1A-AS14Sep 14, 2022
SCN1B20Nov 10, 2022
SCN2A2Dec 31, 2020
SCN4A2May 12, 2022
SCN4B9Jan 6, 2022
SCN5A171Nov 10, 2022
SCN8A1Feb 9, 2021
SCN9A4Sep 14, 2022
SCNN1B2Sep 14, 2022
SDCCAG810Jan 11, 2023
SDHA2Aug 30, 2022
SDHAF21Nov 10, 2020
SDHB29Jan 11, 2023
SDHC4Jul 15, 2022
SDHD11Aug 30, 2022
SDR9C73Dec 14, 2022
SEC23B1Apr 19, 2022
SEC24D2Oct 13, 2022
SEC631Aug 5, 2021
SELENON7Dec 14, 2022
SEPSECS4Oct 13, 2022
SEPTIN91Nov 10, 2022
SEPTIN9-DT1Nov 10, 2022
SERPINA11Sep 14, 2022
SERPINC12Oct 22, 2021
SERPINF110Nov 10, 2022
SETBP14Oct 13, 2022
SETD1B3Jul 29, 2022
SETD23Jul 29, 2022
SETD52Jul 15, 2022
SETX4Nov 10, 2022
SF3B11Aug 5, 2021
SFTA31Mar 6, 2020
SGCA9Nov 10, 2022
SGCB6Jul 15, 2022
SGCD18Jan 11, 2023
SGCE1Dec 14, 2022
SGCG8Dec 14, 2022
SGSH39Dec 14, 2022
SH2D1A3Apr 24, 2019
SHANK21Dec 14, 2022
SHOC237Jan 11, 2023
SHOX16Jan 11, 2023
SHROOM41Jul 29, 2022
SIM11Dec 2, 2020
SIM1-AS11Dec 2, 2020
SIN3A1Sep 14, 2022
SIX12Nov 10, 2022
SKI1May 12, 2022
SKIC29Dec 14, 2022
SKIC310Dec 14, 2022
SLC12A110Jan 11, 2023
SLC12A35Jan 11, 2023
SLC12A52May 12, 2022
SLC12A5-AS11May 12, 2022
SLC12A616Oct 13, 2022
SLC16A24Jul 29, 2022
SLC17A519Sep 14, 2022
SLC19A31Jan 11, 2023
SLC1A21Feb 9, 2021
SLC1A31Jan 11, 2023
SLC1A41Nov 10, 2022
SLC20A22Dec 14, 2022
SLC22A41Jan 11, 2023
SLC22A560Dec 14, 2022
SLC25A12Mar 6, 2020
SLC25A136Jul 15, 2022
SLC25A155Oct 13, 2022
SLC25A2017Jan 11, 2023
SLC26A117Jul 29, 2022
SLC26A111May 12, 2022
SLC26A224Jan 11, 2023
SLC26A445Jan 11, 2023
SLC26A4-AS13Jan 11, 2023
SLC26A5-AS13Sep 14, 2022
SLC27A46Jan 11, 2023
SLC2A13Oct 13, 2022
SLC2A1032Nov 10, 2022
SLC30A101Jul 29, 2022
SLC33A14Dec 14, 2022
SLC34A310Jan 11, 2023
SLC35A33Sep 14, 2022
SLC35C11May 19, 2021
SLC36A11Jan 11, 2023
SLC37A432Jan 11, 2023
SLC39A131May 12, 2022
SLC39A51Oct 6, 2020
SLC40A11Apr 19, 2022
SLC46A13Dec 14, 2022
SLC4A1113Jan 11, 2023
SLC52A21Dec 14, 2022
SLC5A61Jan 11, 2023
SLC6A11Jul 15, 2022
SLC6A193Oct 13, 2022
SLC6A89Dec 14, 2022
SLC7A141Nov 10, 2022
SLC7A14-AS11Nov 10, 2022
SLC7A79Nov 10, 2022
SLC9A11Jan 6, 2022
SLC9A61Mar 11, 2022
SLC9A73Nov 10, 2022
SLCO1B11Jan 11, 2023
SLCO1B31Jan 11, 2023
SLCO1B3-SLCO1B71Jan 11, 2023
SLFN141Feb 9, 2022
SLITRK11Mar 6, 2020
SLX42Dec 14, 2022
SMAD315Nov 10, 2022
SMAD468Jan 11, 2023
SMARCA11Nov 10, 2022
SMARCA24Oct 13, 2022
SMARCA41Apr 29, 2020
SMARCB110Nov 10, 2022
SMARCC22Dec 14, 2022
SMARCE11Dec 14, 2022
SMC1A1Dec 14, 2022
SMC32Mar 11, 2022
SMN141Jan 11, 2023
SMN21Apr 29, 2020
SMPD170Jan 11, 2023
SMPX1May 12, 2022
SNAPC57Jan 11, 2023
SNHG141Apr 29, 2020
SNHG313May 12, 2022
SNORD1181Jul 15, 2022
SNTA125Apr 19, 2022
SNX222Nov 10, 2022
SOCS12Jan 11, 2023
SOD11Jul 29, 2022
SON3Dec 14, 2022
SORD1Dec 21, 2021
SOS1160Jan 11, 2023
SOS2118Jan 11, 2023
SOX102Aug 30, 2022
SOX111Mar 6, 2020
SOX31Mar 11, 2022
SOX42Jul 29, 2022
SP1104Jul 15, 2022
SP1402Jan 6, 2022
SPAG81Dec 14, 2022
SPARC1Mar 11, 2022
SPAST6Oct 13, 2022
SPATA2227Jan 11, 2023
SPATA53Jul 29, 2022
SPATA711Aug 30, 2022
SPECC1L1Dec 2, 2020
SPECC1L-ADORA2A1Dec 2, 2020
SPG1124Jan 11, 2023
SPG77Jan 11, 2023
SPINK130Nov 10, 2022
SPOP1Apr 19, 2022
SPR1Mar 6, 2020
SPRED144Jan 11, 2023
SPTA11Apr 19, 2022
SPTAN13Dec 14, 2022
SPTBN11Nov 16, 2021
SPTBN27Jan 11, 2023
SPTBN43Jan 11, 2023
SPTLC11Nov 10, 2022
SRCAP3Mar 11, 2022
SRFBP17Jan 25, 2018
SRGAP11Feb 26, 2021
SRPX21Feb 9, 2022
SSUH23Dec 14, 2022
STAC31Sep 14, 2022
STAG12Jul 15, 2022
STAR5Jan 11, 2023
STAT11May 12, 2022
STAT340Sep 14, 2022
STAT5B1Apr 19, 2022
STEEP11Jul 29, 2022
STIL1May 12, 2022
STIM11Dec 14, 2022
STK11137Dec 14, 2022
STK41Oct 13, 2022
STON1-GTF2A1L3Aug 18, 2011
STRA61Dec 14, 2022
STRC2Jan 6, 2022
STUB11Oct 13, 2022
STX114Jan 11, 2023
STXBP212Jan 11, 2023
STYXL21Mar 6, 2020
SUFU9May 12, 2022
SUMF115Sep 14, 2022
SUOX7Jan 11, 2023
SURF142Jan 11, 2023
SUZ121Sep 14, 2022
SVIL1Dec 14, 2022
SYCE24Aug 30, 2022
SYNE19Dec 14, 2022
SYNE26Dec 14, 2022
SYNE43Nov 10, 2022
SYNGAP12May 12, 2022
SYNGAP1-AS12May 12, 2022
SYT21May 12, 2022
SZT22Jul 15, 2022
SZT2-AS11Jul 15, 2022
TAB22Jan 11, 2023
TAF13Dec 14, 2022
TAF22Jul 29, 2022
TAF62Dec 21, 2021
TAFAZZIN8Oct 13, 2022
TANGO22Jul 29, 2022
TAOK11Mar 6, 2020
TAOK21Dec 14, 2022
TARDBP1Nov 10, 2022
TARID6Sep 14, 2022
TASP11Jan 11, 2023
TAT2Jul 15, 2022
TAT-AS12Jul 15, 2022
TATDN11Apr 19, 2022
TBCD4May 12, 2022
TBCE2Oct 13, 2022
TBCEL-TECTA1Jan 6, 2022
TBCK3Oct 13, 2022
TBK11Feb 9, 2022
TBL1XR11Jul 29, 2022
TBR11Jul 7, 2021
TBX191May 12, 2022
TBX21Dec 14, 2022
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX58Mar 6, 2020
TBXAS12Oct 13, 2022
TCAP11May 12, 2022
TCF122Jul 15, 2022
TCF208Jan 11, 2023
TCF41May 13, 2020
TCIRG18Nov 10, 2022
TCOF11Aug 30, 2022
TCTN14Dec 14, 2022
TCTN27Jan 11, 2023
TCTN31Mar 11, 2022
TECPR26May 12, 2022
TECTA1Jan 6, 2022
TEK1Oct 13, 2022
TERT1Dec 14, 2022
TET31Jan 11, 2023
TEX121Jan 11, 2023
TFAP2A1Oct 13, 2022
TFAP2B1Jul 15, 2022
TG1Apr 19, 2022
TGDS2Jan 11, 2023
TGFB217Dec 14, 2022
TGFB311May 12, 2022
TGFBR132Jan 11, 2023
TGFBR247Jan 11, 2023
TGM115Nov 10, 2022
TGM62Sep 14, 2022
TH15Jan 11, 2023
TH2-LCR9Oct 13, 2022
TH2LCRR14Oct 13, 2022
THBD1Aug 5, 2021
THOC22Jan 11, 2023
THRB12Dec 14, 2022
THSD11Dec 14, 2022
TIGD11Feb 9, 2022
TIMMDC13Nov 10, 2022
TK28Jan 11, 2023
TLDC21Jan 11, 2023
TLL11Dec 31, 2020
TM4SF201Oct 13, 2022
TMCO11Dec 2, 2020
TMEM1071Jul 15, 2022
TMEM126B2Jan 11, 2023
TMEM1276Sep 14, 2022
TMEM1382Jul 29, 2022
TMEM2168Sep 14, 2022
TMEM2319Dec 14, 2022
TMEM2376Jul 15, 2022
TMEM2401Sep 14, 2022
TMEM38B4Nov 10, 2022
TMEM4347Jan 11, 2023
TMEM50B1Aug 18, 2011
TMEM6719Jan 11, 2023
TMEM701Jul 15, 2022
TMLHE1Mar 6, 2020
TMPO23Apr 19, 2022
TMPO-AS15Mar 11, 2022
TMPPE2Apr 24, 2019
TMPRSS33Jul 29, 2022
TMTC31Sep 14, 2022
TNC2Dec 2, 2020
TNFRSF13B16May 12, 2022
TNFRSF1A1Nov 10, 2022
TNFSF113Jul 15, 2022
TNNC17Sep 1, 2021
TNNI321Nov 10, 2022
TNNT11Aug 18, 2011
TNNT230Dec 14, 2022
TNPO32Jan 11, 2023
TNXB4May 12, 2022
TOE15May 12, 2022
TOP2B3Sep 14, 2022
TOPORS1Oct 6, 2020
TOR1AIP12Aug 30, 2022
TP53116Jan 11, 2023
TPM19Nov 10, 2022
TPM21May 12, 2022
TPO3Jan 11, 2023
TPP131Jan 11, 2023
TPRN1Jul 15, 2022
TRAF71Nov 10, 2022
TRAPPC115Jul 29, 2022
TRAPPC122Sep 14, 2022
TRAPPC12-AS11Sep 14, 2022
TRAPPC92Nov 10, 2022
TRB55Dec 14, 2022
TRDN5Oct 13, 2022
TREX13Aug 30, 2022
TRIM324Jan 11, 2023
TRIM59-IFT801Dec 31, 2020
TRIO4Nov 10, 2022
TRIOBP1Oct 13, 2022
TRIP124Nov 10, 2022
TRMT52Jan 11, 2023
TRMU11Dec 14, 2022
TRNT11Mar 6, 2020
TRPC31Aug 30, 2022
TRPM11Nov 10, 2022
TRPM71Jul 15, 2022
TRPS12Dec 14, 2022
TRPV41Jul 29, 2022
TRRAP2Dec 14, 2022
TSC134Dec 14, 2022
TSC259Dec 14, 2022
TSEN27Oct 13, 2022
TSEN341Mar 11, 2022
TSEN549Dec 14, 2022
TSFM2Jan 11, 2023
TSPAN19Jan 11, 2023
TSPAN3118Jan 11, 2023
TSPEAR2Dec 14, 2022
TTC36-AS11May 12, 2022
TTC7A10Jan 11, 2023
TTC84Jul 15, 2022
TTN1283Jan 11, 2023
TTN-AS1711Jan 11, 2023
TTPA16Sep 14, 2022
TTR43Dec 14, 2022
TUBB12Jan 11, 2023
TUBB32Jan 11, 2023
TUBB4A2Dec 14, 2022
TUBB61Mar 6, 2020
TULP16Jul 29, 2022
TUSC31Jul 29, 2022
TWNK4Jan 11, 2023
TXNL4A1Nov 10, 2022
TYMP1Aug 30, 2022
TYROBP1Oct 13, 2022
UBE3A1Apr 29, 2020
UBR12Sep 14, 2022
UMPS1May 19, 2021
UNC13D23Jan 11, 2023
UNC803Jan 11, 2023
UNG4Sep 14, 2022
UPB11Dec 21, 2021
UPF3B1May 12, 2022
UROC11Sep 14, 2022
UROD1Jan 11, 2023
USH1C6Dec 14, 2022
USH1G8Jul 29, 2022
USH2A149Jan 11, 2023
USH2A-AS110Dec 14, 2022
USH2A-AS29Jan 11, 2023
USP9X4Dec 14, 2022
VCAN1Oct 13, 2022
VCL34Oct 13, 2022
VCP1Jan 6, 2022
VHL89Jan 11, 2023
VLDLR3Jul 15, 2022
VPS13A1May 12, 2022
VPS13B59Jan 11, 2023
VPS13C3Jan 11, 2023
VPS161Oct 13, 2022
VPS5313Nov 10, 2022
VRK11Feb 9, 2022
VRK24Oct 13, 2022
VWA11Jan 11, 2023
VWA3B1Apr 19, 2022
VWF42Jan 11, 2023
WAC2Jul 29, 2022
WAS28Sep 14, 2022
WASHC44Jan 11, 2023
WASHC52Mar 11, 2022
WDFY33Jan 11, 2023
WDPCP1Apr 29, 2020
WDR111Mar 6, 2020
WDR191Dec 21, 2021
WDR262Apr 29, 2020
WDR351Dec 14, 2022
WDR41Mar 11, 2022
WDR451Mar 6, 2020
WDR622Apr 29, 2020
WDR731Jul 29, 2022
WDR811Jul 15, 2022
WFS14Dec 14, 2022
WHRN4Apr 19, 2022
WNK12Jan 11, 2023
WNK41Jul 29, 2022
WNT12Jan 11, 2023
WNT5A1Jul 29, 2022
WRN13Jan 11, 2023
WT110Jan 11, 2023
WWOX2Nov 10, 2022
XPA14Nov 10, 2022
XPC33Jan 11, 2023
XRCC41Dec 14, 2022
ZAP7010Jan 11, 2023
ZBTB246Jul 15, 2022
ZBTB253Jan 11, 2023
ZDHHC2416Oct 13, 2022
ZDHHC91Mar 6, 2020
ZEB22Dec 14, 2022
ZFPM11Oct 6, 2020
ZFYVE263Jan 11, 2023
ZIC12Dec 14, 2022
ZMIZ13Aug 30, 2022
ZNF1422May 12, 2022
ZNF27610Dec 14, 2022
ZNF2924Dec 14, 2022
ZNF4072Feb 26, 2021
ZNF46934Jan 11, 2023
ZNF6271Dec 14, 2022
ZNF7112Aug 30, 2022
ZNHIT31Dec 2, 2020

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1Jul 29, 2022
3-M syndrome4Jan 11, 2023
3-Methylglutaconic aciduria type 23Aug 30, 2022
3-Methylglutaconic aciduria type 31Nov 10, 2022
3M syndrome 25Jan 11, 2023
3M syndrome 31May 12, 2022
3MC syndrome 11Nov 10, 2022
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency10Jan 11, 2023
8q24.3 microdeletion syndrome1Nov 16, 2021
AARS2-Related Disorders2Dec 14, 2022
ACE-Related Disorders1Nov 10, 2022
ALG1-congenital disorder of glycosylation4Jul 15, 2022
ALG12-congenital disorder of glycosylation2Oct 13, 2022
ALG6-congenital disorder of glycosylation 1C2Jul 15, 2022
ATP1A3-Related Disorders1Nov 10, 2022
Abetalipoproteinaemia10Dec 14, 2022
Achondrogenesis type II3Jul 15, 2022
Achondroplasia1Jan 11, 2023
Achromatopsia 21Sep 14, 2022
Acrocallosal syndrome1Nov 10, 2022
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins22Dec 14, 2022
Adams-Oliver syndrome 51Oct 13, 2022
Adrenoleukodystrophy19Jul 15, 2022
Age related macular degeneration 71Aug 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy5Sep 14, 2022
Aicardi Goutieres syndrome9Jan 11, 2023
Aicardi-Goutieres syndrome 12Aug 30, 2022
Aicardi-Goutieres syndrome 61Dec 21, 2021
Al-Raqad syndrome1Jan 6, 2022
Alexander disease1Oct 22, 2021
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alkuraya-Kucinskas syndrome1Sep 14, 2022
Allan-Herndon-Dudley syndrome1Aug 5, 2021
Alpha thalassemia-X-linked intellectual disability syndrome5May 12, 2022
Alpha-1-antitrypsin deficiency1Sep 14, 2022
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alstrom syndrome19Jan 11, 2023
Alternating hemiplegia of childhood 11Dec 14, 2022
Alzheimer disease 35Nov 10, 2022
Amelocerebrohypohidrotic syndrome1Dec 14, 2022
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyloidogenic transthyretin amyloidosis21May 19, 2021
Amyotrophic lateral sclerosis type 41Sep 14, 2022
Amyotrophic lateral sclerosis type 91Sep 14, 2022
Androgen resistance syndrome1Oct 13, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 27, 2021
Angiokeratoma corporis diffusum142Jan 11, 2023
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency2Jul 15, 2022
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency20Jan 11, 2023
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1Nov 16, 2021
Arrhythmogenic right ventricular cardiomyopathy7Sep 24, 2019
Arterial tortuosity syndrome2Sep 1, 2021
Aspartylglucosaminuria5Mar 11, 2022
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Asphyxiating thoracic dystrophy 31Nov 10, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Dec 14, 2022
Ataxia-telangiectasia syndrome154Jan 11, 2023
Ataxia-telangiectasia-like disorder1Mar 6, 2020
Atrial septal defect1Nov 20, 2015
Atrial septal defect 73Apr 11, 2018
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3Sep 14, 2022
Autism spectrum disorder due to AUTS2 deficiency1Sep 14, 2022
Autism, susceptibility to, 171Dec 14, 2022
Autism, susceptibility to, 51Jul 7, 2021
Autosomal dominant Parkinson disease 81Jan 6, 2022
Autosomal dominant epilepsy12Dec 14, 2022
Autosomal dominant hypocalcemia2Jan 6, 2022
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal recessive Alport syndrome26Oct 13, 2022
Autosomal recessive DOPA responsive dystonia7Jan 11, 2023
Autosomal recessive distal renal tubular acidosis2Jul 29, 2022
Autosomal recessive hypophosphatemic bone disease1Jan 11, 2023
Autosomal recessive juvenile Parkinson disease 21Sep 14, 2022
Autosomal recessive limb-girdle muscular dystrophy61Jan 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2J5Jan 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 10, 2022
Autosomal recessive lower motor neuron disease with childhood onset2Oct 13, 2022
Autosomal recessive nonsyndromic hearing loss 1A54Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 251Dec 2, 2020
Autosomal recessive nonsyndromic hearing loss 291Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 32Jan 11, 2023
Autosomal recessive nonsyndromic hearing loss 791Jul 15, 2022
Autosomal recessive nonsyndromic hearing loss 82Aug 6, 2020
Autosomal recessive nonsyndromic hearing loss 91Oct 6, 2020
Autosomal recessive polycystic kidney disease87Jan 11, 2023
Autosomal recessive primary microcephaly9Nov 10, 2022
Autosomal recessive spinocerebellar ataxia 182Nov 10, 2022
Axenfeld-Rieger syndrome type 11Feb 9, 2022
Bailey-Bloch congenital myopathy1Sep 14, 2022
Baller-Gerold syndrome3Sep 1, 2021
Baraitser-Winter syndrome 11Jul 29, 2022
Bardet-Biedl syndrome76Jan 11, 2023
Bardet-Biedl syndrome 104Mar 6, 2020
Bardet-Biedl syndrome 23Apr 24, 2019
Bartter syndrome11Jan 11, 2023
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Oct 13, 2022
Bernard Soulier syndrome3Jul 15, 2022
Beta thalassemia intermedia10Dec 14, 2022
Beta-D-mannosidosis11Nov 10, 2022
Beta-thalassemia major6Apr 19, 2022
Bifunctional peroxisomal enzyme deficiency11Nov 10, 2022
Biotinidase deficiency16Jan 11, 2023
Bloom syndrome34Jan 11, 2023
Bohring-Opitz syndrome6Oct 13, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type E21Aug 5, 2021
Brain small vessel disease 1 with or without ocular anomalies1Jul 29, 2022
Branchiootic syndrome 31Aug 30, 2022
Brittle cornea syndrome 17Jan 11, 2023
Brittle cornea syndrome 23Aug 30, 2022
Brown-Vialetto-van Laere syndrome 21Dec 14, 2022
Brugada syndrome (shorter-than-normal QT interval)8Aug 5, 2021
C1orf69/IBA57-Related Disorders1Oct 13, 2022
CC2D2A-Related Disorders1Dec 2, 2020
CEP290-Related Disorders18Jan 11, 2023
CFH-Related Disorders1May 12, 2022
CHARGE association2Apr 24, 2019
CHD8-Related Disorders1Sep 1, 2021
CHIME syndrome1Oct 13, 2022
CLCN2-Related Disorders1Jan 11, 2023
COG5-congenital disorder of glycosylation1Jul 29, 2022
COG6-ongenital disorder of glycosylation1Feb 9, 2022
COG8-congenital disorder of glycosylation1Mar 11, 2022
COL9A1-Related Disorders2Sep 14, 2022
CUL3-Related Disorders1Oct 13, 2022
Canavan Disease, Familial Form21Dec 14, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jul 15, 2022
Cardiac arrhythmia64Sep 14, 2022
Cardiac valvular defect, developmental1Dec 31, 2020
Cardio-facio-cutaneous syndrome16Jul 29, 2022
Cardiomyopathy126Jan 11, 2023
Cardiovascular phenotype31Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency13Jan 11, 2023
Carnitine palmitoyl transferase 1A deficiency2Oct 13, 2022
Carnitine palmitoyltransferase II deficiency17Jan 11, 2023
Carpenter syndrome3Dec 14, 2022
Catecholaminergic polymorphic ventricular tachycardia2Apr 27, 2021
Catel-Manzke syndrome2Jan 11, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21Jul 15, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 14, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Mar 11, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebrofaciothoracic dysplasia1Dec 2, 2020
Cerebrooculofacioskeletal syndrome 32Nov 10, 2022
Charcot-Marie-Tooth disease axonal type 2CC1Jan 11, 2023
Charcot-Marie-Tooth disease axonal type 2S2Jul 15, 2022
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease type 4J1Jul 15, 2022
Charlevoix-Saguenay spastic ataxia32Jan 11, 2023
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 10, 2022
Cholestanol storage disease10Dec 14, 2022
Chronic granulomatous disease5Oct 13, 2022
Chuvash polycythemia2Jan 11, 2023
Ciliary dyskinesia, primary, 401Oct 13, 2022
Citrullinemia type I15May 13, 2020
Citrullinemia type II3Jul 15, 2022
Citrullinuria7Jan 11, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Jul 29, 2022
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease41Jan 11, 2023
Cockayne syndrome12Jan 11, 2023
Coenzyme Q10 deficiency, primary, 12Nov 10, 2022
Coffin-Lowry syndrome2Jul 29, 2022
Coffin-Siris syndrome2Jan 6, 2022
Coffin-Siris syndrome 81Oct 13, 2022
Cohen syndrome34Jan 11, 2023
Cold-induced sweating syndrome2Sep 14, 2022
Collagen 6-related myopathy2Jul 15, 2022
Colorectal carcinoma1Nov 10, 2022
Combined deficiency of sialidase AND beta galactosidase5Jan 6, 2022
Combined immunodeficiency with skin granulomas1Nov 20, 2015
Combined malonic and methylmalonic acidemia7Nov 10, 2022
Combined oxidative phosphorylation defect type 111Jul 29, 2022
Combined oxidative phosphorylation defect type 241May 12, 2022
Combined oxidative phosphorylation defect type 262Jan 11, 2023
Combined oxidative phosphorylation defect type 72Jan 11, 2023
Combined oxidative phosphorylation deficiency 321Sep 14, 2022
Combined oxidative phosphorylation deficiency 441Oct 13, 2022
Combined pituitary hormone deficiencies, genetic form5Aug 18, 2011
Common variable agammaglobulinemia4Mar 11, 2022
Complex cortical dysplasia with other brain malformations 12Jan 11, 2023
Congenital adrenal hyperplasia56Dec 14, 2022
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital amegakaryocytic thrombocytopenia13Jan 11, 2023
Congenital bilateral aplasia of vas deferens from CFTR mutation10Jan 11, 2023
Congenital disorder of deglycosylation2Jul 15, 2022
Congenital disorder of glycosylation type I1May 12, 2022
Congenital disorder of glycosylation with defective fucosylation1May 12, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 13, 2020
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I22Dec 14, 2022
Congenital isolated adrenocorticotropic hormone deficiency1May 12, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type6Oct 13, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency4Jan 11, 2023
Congenital long QT syndrome2Mar 6, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome5Jan 11, 2023
Congenital multicore myopathy with external ophthalmoplegia1Nov 10, 2022
Congenital muscular dystrophy due to LMNA mutation1Nov 20, 2015
Congenital muscular dystrophy with intellectual disability and severe epilepsy1Nov 10, 2020
Congenital myasthenic syndrome22Jan 11, 2023
Congenital myasthenic syndrome 2C1Nov 10, 2022
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal recessive form3Aug 30, 2022
Congenital nonprogressive myopathy with Moebius and Robin sequences1Jan 11, 2023
Corneal dystrophy-perceptive deafness syndrome3Jan 11, 2023
Cornelia de Lange syndrome 52Mar 6, 2020
Cortical dysplasia-focal epilepsy syndrome2Jul 15, 2022
Costello syndrome6May 12, 2022
Cowden syndrome11May 12, 2022
Craniofrontonasal syndrome1May 13, 2020
Creatine transporter deficiency4Aug 30, 2022
Cutis laxa7Jan 11, 2023
Cutis laxa, autosomal recessive, type 1B2Sep 14, 2022
Cystic fibrosis285Jan 11, 2023
Cystic fibrosis-gastritis-megaloblastic anemia syndrome1May 19, 2021
Cystinosis23Jan 11, 2023
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
D-Glyceric aciduria2Jan 11, 2023
DNA ligase IV deficiency1Mar 11, 2022
DPAGT1-congenital disorder of glycosylation1Dec 21, 2021
DYRK1A-related intellectual disability syndrome1Apr 27, 2021
Danon disease1Jul 29, 2022
DeSanto-Shinawi syndrome due to WAC point mutation1Nov 16, 2021
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 19, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase2Dec 14, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase65Jan 25, 2023
Deficiency of acetyl-CoA acetyltransferase16Jan 11, 2023
Deficiency of alpha-mannosidase22Dec 14, 2022
Deficiency of aromatic-L-amino-acid decarboxylase2Apr 19, 2022
Deficiency of beta-ureidopropionase1Dec 21, 2021
Deficiency of butyrylcholinesterase9Oct 13, 2022
Deficiency of galactokinase3Sep 14, 2022
Deficiency of guanidinoacetate methyltransferase11Sep 14, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase10Jan 11, 2023
Deficiency of iodide peroxidase3Jan 11, 2023
Deficiency of ribose-5-phosphate isomerase3May 12, 2022
Deficiency of steroid 17-alpha-monooxygenase1Nov 16, 2021
Dent disease2Jan 11, 2023
Developmental and epileptic encephalopathy 942Nov 10, 2022
Developmental and epileptic encephalopathy, 423Jan 11, 2023
Developmental and epileptic encephalopathy, 491Jan 11, 2023
Developmental delay and seizures with or without movement abnormalities1May 12, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2Oct 13, 2022
Dias-Logan syndrome1Oct 22, 2021
Dihydropteridine reductase deficiency4Jan 11, 2023
Dihydropyrimidine dehydrogenase deficiency23Dec 14, 2022
Dominant beta-thalassemia4Jul 15, 2022
Donnai-Barrow syndrome2Oct 13, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dyskeratosis congenita9May 12, 2022
EEF1A2-related disorders1Feb 26, 2021
ELOVL4-Related Disorders1Nov 10, 2022
Early Infantile Epileptic Encephalopathy, Autosomal Recessive1Nov 10, 2022
Early infantile epileptic encephalopathy with suppression bursts1Nov 10, 2022
Early-onset coronary artery disease4Jan 11, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2May 12, 2022
Ectodermal dysplasia and immunodeficiency 17Jan 25, 2018
Ehlers-Danlos syndrome1Oct 13, 2022
Ehlers-Danlos syndrome, dermatosparaxis type3Dec 14, 2022
Ehlers-Danlos syndrome, musculocontractural type2Oct 22, 2021
Ehlers-Danlos syndrome, type 48Jan 6, 2022
Eichsfeld type congenital muscular dystrophy4Dec 14, 2022
Elliptocytosis 21Apr 19, 2022
Ellis-van Creveld syndrome1Oct 13, 2022
Emery-Dreifuss muscular dystrophy3Aug 5, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 6, 2020
Encephalopathy due to GLUT1 deficiency1Jul 15, 2022
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1May 22, 2020
Epidermolysis bullosa dystrophica3Oct 13, 2022
Epilepsy, familial focal, with variable foci 31Jan 11, 2023
Episodic ataxia type 11Jul 29, 2022
Ethylmalonic encephalopathy9Jan 11, 2023
FGFR1-Related Disorders1Jul 29, 2022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Dec 21, 2021
Factor XIII, A subunit, deficiency of1Jan 6, 2022
Familial Atypical Hemolytic-Uremic Syndrome3Oct 13, 2022
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome1Apr 19, 2022
Familial Mediterranean fever26Jul 15, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets9Nov 10, 2022
Familial adenomatous polyposis 234Jul 15, 2022
Familial aortopathy28Jan 11, 2023
Familial cancer of breast35May 13, 2020
Familial dysautonomia12Oct 13, 2022
Familial dysfibrinogenemia4Sep 14, 2022
Familial ectopia lentis2Nov 10, 2022
Familial exudative vitreoretinopathy1Oct 13, 2022
Familial hemophagocytic lymphohistiocytosis25Jan 11, 2023
Familial hypercholesterolemia125Jan 11, 2023
Familial hyperinsulinism40Jan 11, 2023
Familial hypoalphalipoproteinemia1May 12, 2022
Familial hypocalciuric hypercalcemia41Dec 14, 2022
Familial hypokalemia-hypomagnesemia4Jan 11, 2023
Familial hypoparathyroidism1Aug 18, 2011
Familial isolated arrhythmogenic right ventricular dysplasia23Dec 14, 2022
Familial isolated deficiency of vitamin E9Sep 14, 2022
Familial melanoma11Nov 10, 2022
Familial multiple polyposis syndrome71Jan 11, 2023
Familial prostate carcinoma5Jan 11, 2023
Familial spontaneous pneumothorax3Apr 24, 2019
Familial thoracic aortic aneurysm and aortic dissection2Mar 11, 2022
Fanconi anemia39Jan 11, 2023
Fanconi anemia complementation group C28Jan 11, 2023
Fanconi anemia complementation group J7Dec 14, 2022
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32Jan 11, 2023
Finnish congenital nephrotic syndrome41Jan 11, 2023
Fraser syndrome 19Jan 11, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Feb 9, 2022
Fucosidosis7May 12, 2022
Fumarase deficiency1Apr 24, 2019
G6PD deficiency1Oct 13, 2022
GEMIN5-Related Disorders2Aug 5, 2021
GM1 gangliosidosis15Sep 14, 2022
GNB5-Related Disorders2Nov 10, 2022
GNE myopathy8Jan 11, 2023
GRACILE syndrome6Oct 13, 2022
GTP cyclohydrolase I deficiency1Aug 30, 2022
Galactosylceramide beta-galactosidase deficiency36Jan 11, 2023
Gastrointestinal defect and immunodeficiency syndrome3Jan 11, 2023
Gaucher disease59Dec 14, 2022
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 29, 2020
Glucocorticoid deficiency with achalasia2Oct 13, 2022
Glucose-6-phosphate transport defect26Jan 11, 2023
Glutaric aciduria, type 139Jan 11, 2023
Gluthathione synthetase deficiency8Jan 11, 2023
Glycogen phosphorylase kinase deficiency9Jan 11, 2023
Glycogen storage disease IIIa7May 19, 2021
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease IXa11Apr 24, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA27Jan 11, 2023
Glycogen storage disease type III33Dec 14, 2022
Glycogen storage disease type X1Dec 14, 2022
Glycogen storage disease, type II123Jan 11, 2023
Glycogen storage disease, type IV10Sep 14, 2022
Glycogen storage disease, type V13Dec 14, 2022
Glycogen storage disease, type VII2Oct 13, 2022
Glycogen storage disorder due to hepatic glycogen synthase deficiency1Jan 11, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Oct 13, 2022
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome3Jan 11, 2023
Granulomatous disease, chronic, X-linked21May 12, 2022
Griscelli syndrome type 22Sep 14, 2022
Hearing loss, autosomal recessive 1111Jul 29, 2022
Hemochromatosis type 15Mar 11, 2022
Hemochromatosis type 2A2Jul 29, 2022
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy33Jan 6, 2022
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 15, 2022
Hereditary antithrombin deficiency2Oct 22, 2021
Hereditary breast ovarian cancer syndrome1323Jan 11, 2023
Hereditary cancer-predisposing syndrome10Jan 25, 2018
Hereditary diffuse gastric adenocarcinoma13Jul 15, 2022
Hereditary factor IX deficiency disease4Dec 14, 2022
Hereditary fructosuria18Jan 11, 2023
Hereditary insensitivity to pain with anhidrosis3Jan 11, 2023
Hereditary nonpolyposis colon cancer259Jan 11, 2023
Hereditary pancreatitis18Jul 29, 2022
Hereditary pheochromocytoma-paraganglioma22Sep 14, 2022
Hereditary spastic paraplegia11Jan 11, 2023
Hereditary spastic paraplegia 122Jul 29, 2022
Hereditary spastic paraplegia 3A1Mar 6, 2020
Hereditary spastic paraplegia 43Aug 30, 2022
Hereditary spastic paraplegia 451Jul 15, 2022
Hereditary spastic paraplegia 462Dec 31, 2020
Hereditary spastic paraplegia 481Dec 14, 2022
Hereditary spastic paraplegia 511Jul 15, 2022
Hereditary spastic paraplegia 541Jul 15, 2022
Hereditary spastic paraplegia 74Dec 14, 2022
Hermansky-Pudlak syndrome17Jan 11, 2023
Hirschsprung disease, susceptibility to, 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Holocarboxylase synthetase deficiency10Jan 11, 2023
Holt-Oram syndrome1Mar 6, 2020
Homocystinuria46Dec 14, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Aug 30, 2022
Hyaline fibromatosis syndrome1Mar 11, 2022
Hydrolethalus syndrome1Jan 6, 2022
Hyper-IgE recurrent infection syndrome 111Sep 14, 2022
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 15Nov 10, 2020
Hyper-IgM syndrome type 22Aug 18, 2011
Hyper-IgM syndrome type 52Aug 18, 2011
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Sep 14, 2022
Hypercalcemia, infantile, 12Jan 11, 2023
Hypercholesterolemia, autosomal dominant, type B1Nov 10, 2022
Hypercholesterolemia, familial, 119Nov 20, 2015
Hyperimmunoglobulin M syndrome2Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 110Apr 29, 2020
Hyperlipoproteinemia, type I6Jan 11, 2023
Hyperlysinemia1Jan 11, 2023
Hyperornithinemia5Jan 11, 2023
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Oct 13, 2022
Hyperphenylalaninemia9Jan 25, 2018
Hyperphosphatasia with intellectual disability syndrome 41Jan 11, 2023
Hyperproinsulinemia1Sep 14, 2022
Hypogonadotropic hypogonadism 1 with or without anosmia1Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypogonadotropic hypogonadism 3 with or without anosmia2Jan 11, 2023
Hypohidrotic X-linked ectodermal dysplasia1Mar 11, 2022
Hypokalemic periodic paralysis1Dec 14, 2022
Hypomyelinating leukodystrophy 21Oct 13, 2022
Hypomyelinating leukodystrophy 31Oct 13, 2022
Hypomyelinating leukodystrophy 61Apr 24, 2019
Hypophosphatasia40Jan 11, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Jan 11, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 6, 2020
IFN-gamma receptor 1 deficiency1Jan 25, 2018
IFT172-Related Disorders1Apr 19, 2022
Ichthyosis vulgaris1Feb 9, 2021
Idiopathic basal ganglia calcification 12Dec 14, 2022
Idiopathic growth hormone deficiency4Aug 18, 2011
Idiopathic nephrotic syndrome5Sep 14, 2022
Immunodeficiency, common variable, 22Aug 18, 2011
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Jan 11, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 21May 12, 2022
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 31, 2020
Incontinentia pigmenti syndrome1Aug 6, 2020
Infantile epileptic dyskinetic encephalopathy2Oct 13, 2022
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 11, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Aug 30, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder 621Nov 10, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis1Mar 11, 2022
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder with seizures and language delay1Dec 21, 2021
Intellectual developmental disorder, autosomal dominant 641Feb 9, 2022
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual disability, X-linked 1024Oct 13, 2022
Intellectual disability, X-linked 1071Jul 29, 2022
Intellectual disability, X-linked 411May 12, 2022
Intellectual disability, X-linked 991Dec 14, 2022
Intellectual disability, X-linked syndromic, Turner type1Dec 14, 2022
Intellectual disability, X-linked, syndromic, Bain type1Jul 29, 2022
Intellectual disability, X-linked, with or without seizures, arx-related2Feb 9, 2022
Intellectual disability, autosomal dominant 141Aug 30, 2022
Intellectual disability, autosomal dominant 201Jul 29, 2022
Intellectual disability, autosomal dominant 241Apr 19, 2022
Intellectual disability, autosomal dominant 471Apr 24, 2019
Intellectual disability, autosomal dominant 61Mar 6, 2020
Intellectual disability, autosomal dominant 81May 12, 2022
Intellectual disability, autosomal dominant 92Jul 15, 2022
Intellectual disability, autosomal recessive 131Nov 10, 2022
Intellectual disability, autosomal recessive 181Feb 9, 2021
Intellectual disability, autosomal recessive 271Jan 11, 2023
Intellectual disability, autosomal recessive 31Jan 11, 2023
Intellectual disability, autosomal recessive 432Jan 11, 2023
Intellectual disability, autosomal recessive 461Dec 31, 2020
Intellectual disability, autosomal recessive 531Oct 13, 2022
Intellectual disability, autosomal recessive 581Apr 19, 2022
Intellectual disability, autosomal recessive 651Aug 5, 2021
Intellectual disability, autosomal recessive 71Jul 29, 2022
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 1, 2020
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 7, 2021
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1Apr 24, 2019
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Sep 9, 2020
Interferon gamma receptor deficiency6Aug 18, 2011
Isovaleryl-CoA dehydrogenase deficiency5Jan 11, 2023
Joubert syndrome 23Nov 16, 2021
Joubert syndrome 381Apr 19, 2022
Joubert syndrome 61Jan 11, 2023
Joubert syndrome and related disorders75Jan 11, 2023
Junctional epidermolysis bullosa25Jan 11, 2023
Junctional epidermolysis bullosa gravis of Herlitz13May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type3Mar 6, 2020
Juvenile polyposis syndrome6Jan 11, 2023
KCNQ2-Related Disorders1Oct 13, 2022
KIF5A-Related Disorders1Dec 14, 2022
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 22Jan 11, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Sep 14, 2022
Koolen-de Vries syndrome1Oct 13, 2022
L-2-hydroxyglutaric aciduria1Apr 19, 2022
L-ferritin deficiency1Sep 14, 2022
L1 syndrome14Jan 11, 2023
LAMA2-related muscular dystrophy5Jan 11, 2023
Lamellar ichthyosis36Jan 11, 2023
Landau-Kleffner syndrome1May 19, 2021
Larsen syndrome1Sep 14, 2022
Laryngo-onycho-cutaneous syndrome1Jul 15, 2022
Leber congenital amaurosis24Jan 11, 2023
Left ventricular noncompaction1Dec 14, 2022
Legius syndrome1Apr 29, 2020
Leigh syndrome55Jan 11, 2023
Leri-Weill dyschondrosteosis1Jan 11, 2023
Lethal multiple pterygium syndrome4Dec 14, 2022
Leukocyte adhesion deficiency type II1May 19, 2021
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Aug 30, 2022
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1Mar 11, 2022
Li-Fraumeni syndrome22Jan 11, 2023
Lichtenstein-Knorr syndrome1Jan 6, 2022
Liddle syndrome 11Sep 14, 2022
Lipoic acid synthetase deficiency1May 12, 2022
Loeys-Dietz syndrome17Oct 13, 2022
Long QT syndrome38Dec 14, 2022
Long QT syndrome 15Sep 24, 2019
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency14Oct 13, 2022
Lynch syndrome219May 13, 2020
Lysinuric protein intolerance4Nov 10, 2022
MAN2B2-Related Disorders1Apr 27, 2021
MED12-Related Disorders1Sep 14, 2022
MEN2 phenotype: Unclassified4Nov 10, 2022
MFN2-Related Disorders1Apr 19, 2022
MHC class II deficiency7Dec 14, 2022
MICU2-Related Disorders1May 19, 2021
MPI-congenital disorder of glycosylation1Feb 9, 2022
MPZ-Related Disorders1Dec 14, 2022
MYH3-Related Disorders3Jan 11, 2023
MYO7A-Related Disorders1Dec 2, 2020
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Jul 15, 2022
Macrothrombocytopenia, isolated, 1, autosomal dominant2Jan 11, 2023
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Jan 11, 2023
Majeed syndrome1Jul 15, 2022
Malan overgrowth syndrome2Mar 6, 2020
Malignant hyperthermia of anesthesia8Sep 14, 2022
Malignant tumor of breast58Jan 11, 2023
Maple syrup urine disease29Dec 14, 2022
Maple syrup urine disease type 1A7Apr 7, 2021
Maple syrup urine disease type 1B12Aug 6, 2020
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections133Jan 11, 2023
Marfan syndrome88Nov 27, 2018
Maturity onset diabetes mellitus in young11Jan 11, 2023
Maturity-onset diabetes of the young type 123Nov 17, 2015
Maturity-onset diabetes of the young type 2107Dec 14, 2022
Maturity-onset diabetes of the young type 338Nov 17, 2015
Maturity-onset diabetes of the young type 410Nov 17, 2015
Maturity-onset diabetes of the young type 81Aug 18, 2011
Meckel syndrome, type 13Jan 11, 2023
Meckel syndrome, type 45Jul 29, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency33Jan 11, 2023
Megalencephalic leukoencephalopathy with subcortical cysts5Jan 11, 2023
Melanoma, cutaneous malignant, susceptibility to, 81Sep 14, 2022
Menke-Hennekam syndrome1Aug 30, 2022
Menkes kinky-hair syndrome4Sep 14, 2022
Metachromatic leukodystrophy49Jan 11, 2023
Metaphyseal anadysplasia 1, autosomal dominant1Jul 29, 2022
Metaphyseal chondrodysplasia, McKusick type55Jan 11, 2023
Methylcrotonyl-CoA carboxylase deficiency11Jan 11, 2023
Methylmalonic acidemia70Jan 11, 2023
Microcephaly 21, primary, autosomal recessive1Feb 9, 2022
Microcephaly 3, primary, autosomal recessive1Sep 14, 2022
Microcephaly 7, primary, autosomal recessive1May 12, 2022
Microcephaly, normal intelligence and immunodeficiency20Dec 14, 2022
Microcephaly, short stature, and limb abnormalities1May 12, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Jul 29, 2022
Microspherophakia1Jan 6, 2022
Mitochondrial DNA depletion syndrome6Jan 11, 2023
Mitochondrial DNA depletion syndrome 11Aug 30, 2022
Mitochondrial complex 1 deficiency, nuclear type 171Jan 11, 2023
Mitochondrial complex 1 deficiency, nuclear type 192Dec 14, 2022
Mitochondrial complex 1 deficiency, nuclear type 211May 12, 2022
Mitochondrial complex 1 deficiency, nuclear type 221Aug 30, 2022
Mitochondrial complex 1 deficiency, nuclear type 251Jul 15, 2022
Mitochondrial complex 1 deficiency, nuclear type 292Jan 11, 2023
Mitochondrial complex 1 deficiency, nuclear type 312Nov 10, 2022
Mitochondrial complex 1 deficiency, nuclear type 321Apr 19, 2022
Mitochondrial complex 1 deficiency, nuclear type 341Jun 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 71Aug 30, 2022
Mitochondrial complex 4 deficiency, nuclear type 111Sep 14, 2022
Mitochondrial complex 4 deficiency, nuclear type 31Apr 19, 2022
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial complex I deficiency9Jan 11, 2023
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1May 19, 2021
Mitochondrial trifunctional protein deficiency11Jan 11, 2023
Monogenic diabetes14Jan 11, 2023
Morquio syndrome25Jan 11, 2023
Mowat-Wilson syndrome1Jan 6, 2022
Mucolipidosis20Jan 11, 2023
Mucolipidosis type II6Mar 6, 2020
Mucolipidosis type IV13Jan 11, 2023
Mucopolysaccharidosis type 145Dec 14, 2022
Mucopolysaccharidosis type 618Jan 11, 2023
Mucopolysaccharidosis type 77Jan 11, 2023
Mucopolysaccharidosis, MPS-II10Nov 10, 2022
Mucopolysaccharidosis, MPS-III-A23Dec 14, 2022
Mucopolysaccharidosis, MPS-III-B24Jan 11, 2023
Mucopolysaccharidosis, MPS-III-D1Oct 13, 2022
Mucopolysaccharidosis, MPS-IV-B10May 12, 2022
Multiple acyl-CoA dehydrogenase deficiency11Dec 14, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11Nov 10, 2022
Multiple congenital exostosis1Apr 24, 2019
Multiple cutaneous leiomyomas4Dec 14, 2022
Multiple endocrine neoplasia, type 139Jan 11, 2023
Multiple endocrine neoplasia, type 25Sep 14, 2022
Multiple endocrine neoplasia, type 2a6Jul 15, 2022
Multiple endocrine neoplasia, type 2b1Sep 1, 2021
Multiple fibrofolliculomas6Aug 30, 2022
Multiple sulfatase deficiency8Aug 30, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 410Dec 14, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Feb 9, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 12Dec 14, 2022
NOTCH3-Related Disorders1Jul 29, 2022
NPR2-Related Disorders1Dec 14, 2022
Nemaline myopathy67Jan 11, 2023
Nemaline myopathy 41May 12, 2022
Neonatal diabetes mellitus27Nov 17, 2015
Neonatal severe primary hyperparathyroidism2Feb 9, 2022
Nephrogenic diabetes insipidus22Jan 11, 2023
Nephronophthisis 131Dec 21, 2021
Nephronophthisis 151Jan 11, 2023
Nephronophthisis 31Dec 21, 2021
Nephronophthisis 41Mar 6, 2020
Nephrotic syndrome, type 217Nov 16, 2021
Neurodegeneration with ataxia and late-onset optic atrophy1Jul 29, 2022
Neurodegeneration with brain iron accumulation20Jan 11, 2023
Neurodegeneration with brain iron accumulation 51Mar 6, 2020
Neurodegeneration, infantile-onset, biotin-responsive1Jan 11, 2023
Neurodevelopmental disorder1Mar 6, 2020
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 14, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 11, 2022
Neurofibromatosis, type 129Jan 11, 2023
Neurofibromatosis, type 23Feb 26, 2021
Neuronal ceroid lipofuscinosis70Jan 11, 2023
Neuronal ceroid lipofuscinosis 15Mar 6, 2020
Neuronal ceroid lipofuscinosis 21Apr 29, 2020
Neuronal ceroid lipofuscinosis 35Mar 6, 2020
Neuronal ceroid lipofuscinosis 51Mar 6, 2020
Neuronal ceroid lipofuscinosis 83May 19, 2021
Neuropathy, hereditary sensory, type 2C1Oct 6, 2020
Neutral 1 amino acid transport defect2Sep 14, 2022
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A18Jan 11, 2023
Niemann-Pick disease, type B8Jul 15, 2022
Niemann-Pick disease, type C49Jan 11, 2023
Nijmegen breakage syndrome-like disorder2Feb 9, 2021
Non-ketotic hyperglycinemia32Dec 14, 2022
Non-syndromic X-linked intellectual disability1Oct 22, 2020
Nonsyndromic Deafness1Mar 6, 2020
Nonsyndromic genetic hearing loss15Jan 11, 2023
Noonan syndrome4Sep 24, 2019
Noonan syndrome 23Dec 14, 2022
Noonan syndrome 322Sep 24, 2019
Noonan syndrome with multiple lentigines3Jan 6, 2022
Noonan syndrome-like disorder with loose anagen hair1Sep 1, 2021
O'Donnell-Luria-Rodan syndrome2Jan 11, 2023
OPA1-Related Disorders1May 12, 2022
Obesity10Nov 17, 2015
Occipital pachygyria and polymicrogyria1Jul 29, 2022
Ornithine aminotransferase deficiency1Oct 22, 2021
Ornithine carbamoyltransferase deficiency18Jan 11, 2023
Orofaciodigital syndrome type 141Jan 11, 2023
Orofaciodigital syndrome type 61Jul 29, 2022
Osteochondrodysplasia18Jan 11, 2023
Osteogenesis imperfecta80Jan 11, 2023
Osteopetrosis6Nov 10, 2022
Osteoporosis with pseudoglioma1Nov 17, 2015
PALB2-Related Disorders1Feb 9, 2022
PAX2-Related Disorders1Dec 14, 2022
PDX1-Related Disorders1Jul 29, 2022
PHGDH deficiency2Jan 6, 2022
PI4KA-Related Disorders1Dec 14, 2022
PIEZO2-Related Disorders1Dec 14, 2022
PIK3CA related overgrowth syndrome2Jul 29, 2022
PMM2-congenital disorder of glycosylation47Nov 10, 2022
PNPLA6-related disorders1Nov 10, 2022
POLG-Related Spectrum Disorders6Jan 11, 2023
POLG2-Related Disorders1Nov 10, 2022
POLR1C-Related Disorders3Sep 14, 2022
POLR3-related leukodystrophy2Jul 29, 2022
PPARG-Related Disorders1Dec 14, 2022
PRNP-Related Disorders1Dec 14, 2022
PTEN hamartoma tumor syndrome1Dec 31, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 6, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Parathyroid carcinoma1Apr 24, 2019
Parietal foramina 21Jul 15, 2022
Pendred syndrome23Jan 11, 2023
Periventricular nodular heterotopia 61Jul 15, 2022
Periventricular nodular heterotopia 91Jan 11, 2023
Permanent neonatal diabetes mellitus1Apr 19, 2022
Peroxisome biogenesis disorder86Jan 11, 2023
Peters plus syndrome2Jul 15, 2022
Peutz-Jeghers syndrome12Aug 30, 2022
Phenylketonuria146Jan 11, 2023
Pheochromocytoma2Feb 9, 2022
Pigmentary pallidal degeneration8Dec 14, 2022
Pili torti-deafness syndrome2Dec 14, 2022
Pili torti-developmental delay-neurological abnormalities syndrome1Sep 14, 2022
Poirier-Bienvenu neurodevelopmental syndrome1Jan 11, 2023
Pol III-related leukodystrophy1Apr 19, 2022
Polycystic kidney disease 21Jan 11, 2023
Polycystic kidney disease, adult type2Apr 19, 2022
Polyglandular autoimmune syndrome, type 118Jan 11, 2023
Pontocerebellar hypoplasia, type 1D1Nov 10, 2022
Pontoneocerebellar hypoplasia30Jan 11, 2023
Porencephaly 22Jan 11, 2023
Posterior column ataxia-retinitis pigmentosa syndrome1Sep 14, 2022
Postmenopausal osteoporosis2Aug 18, 2011
Pretibial blistering1Mar 6, 2020
Primary ciliary dyskinesia 21Jan 6, 2022
Primary congenital glaucoma8Jan 11, 2023
Primary dilated cardiomyopathy8Nov 20, 2015
Primary familial dilated cardiomyopathy25Jan 11, 2023
Primary familial hypertrophic cardiomyopathy71Jan 11, 2023
Primary hyperoxaluria27Jan 11, 2023
Primary hyperoxaluria type 36Jul 29, 2022
Primary hyperoxaluria, type II6Nov 16, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31Oct 13, 2022
Progressive familial intrahepatic cholestasis20Jan 11, 2023
Progressive pseudorheumatoid dysplasia4Dec 14, 2022
Propionic acidemia45Dec 14, 2022
Proteasome-associated autoinflammatory syndrome 11Oct 13, 2022
Proximal myopathy with extrapyramidal signs1Sep 14, 2022
Pseudo-Hurler polydystrophy1Jan 25, 2018
Pseudoxanthoma elasticum1Apr 19, 2022
Pyridoxal phosphate-responsive seizures2Jul 15, 2022
Pyridoxine-dependent epilepsy8Dec 14, 2022
Pyruvate dehydrogenase E3 deficiency5Nov 10, 2022
Pyruvate dehydrogenase E3-binding protein deficiency1Oct 13, 2022
Pyruvate dehydrogenase complex deficiency2Feb 9, 2022
Qualitative or quantitative defects of dystrophin121Jan 11, 2023
Quebec platelet disorder1Oct 13, 2022
RAB3GAP2-Related Disorders1Nov 10, 2022
RASopathy88Nov 10, 2022
RECQL4-Related Disorders2Jan 11, 2023
RYR1-Related Disorders1Apr 19, 2022
Radial aplasia-thrombocytopenia syndrome1Sep 14, 2022
Rapadilino syndrome3Sep 1, 2021
Renal carnitine transport defect33Dec 14, 2022
Renal cysts and diabetes syndrome20Aug 18, 2011
Renal hypodysplasia/aplasia 31Apr 29, 2020
Renal tubular acidosis with progressive nerve deafness3Dec 14, 2022
Retinitis pigmentosa44Jan 11, 2023
Retinitis pigmentosa 592Oct 13, 2022
Retinoblastoma2Jul 29, 2022
Rett syndrome41Oct 13, 2022
Rett syndrome, congenital variant1Jul 29, 2022
Rhizomelic chondrodysplasia punctata1Jun 17, 2021
Rhizomelic chondrodysplasia punctata type 113Jul 29, 2022
Rippling muscle disease 21Jul 15, 2022
Rothmund-Thomson syndrome type 23Sep 1, 2021
Rotor syndrome2Jan 11, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Jun 17, 2021
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Jul 29, 2022
SEC23B-Related Disorders1Apr 19, 2022
SHORT syndrome1Mar 6, 2020
SHOX-related short stature5Nov 17, 2015
SIM1-Related Disorders1Dec 2, 2020
Salla disease11Sep 14, 2022
Sandhoff disease32Jan 11, 2023
Sanfilippo syndrome19Sep 14, 2022
Schaaf-Yang syndrome1Jul 15, 2022
Schwannomatosis3Oct 6, 2020
Severe X-linked myotubular myopathy5Aug 30, 2022
Severe combined immunodeficiency disease92Jan 11, 2023
Severe combined immunodeficiency due to IKK2 deficiency1Apr 19, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 6, 2020
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature with microcephaly and distinctive facies1Aug 30, 2022
Short stature, microcephaly, and endocrine dysfunction1Dec 14, 2022
Short stature-brachydactyly-obesity-global developmental delay syndrome1Jul 1, 2020
Shprintzen-Goldberg syndrome1May 12, 2022
Sialidosis8Dec 14, 2022
Sickle cell disease and related diseases1Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Sitosterolemia 11Apr 19, 2022
Sjögren-Larsson syndrome18Jan 11, 2023
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Apr 29, 2020
Smith-Lemli-Opitz syndrome41Jan 11, 2023
Smith-Magenis syndrome2Sep 14, 2022
Sorbitol dehydrogenase deficiency with peripheral neuropathy1Dec 21, 2021
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Nov 10, 2022
Sphingomyelin/cholesterol lipidosis8Jan 11, 2023
Spinal muscular atrophy6Oct 6, 2020
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 19/221Jul 29, 2022
Spinocerebellar ataxia type 271Nov 10, 2022
Spinocerebellar ataxia type 281Jul 15, 2022
Spinocerebellar ataxia type 351Sep 14, 2022
Spinocerebellar ataxia type 52Dec 14, 2022
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Spondyloperipheral dysplasia1Jul 29, 2022
Stargardt disease3Sep 14, 2022
Stickler syndrome1Apr 29, 2020
Stüve-Wiedemann syndrome 11Apr 19, 2022
Succinate-semialdehyde dehydrogenase deficiency1Apr 7, 2021
Sudden cardiac failure, infantile2Sep 14, 2022
Suleiman-El-Hattab syndrome1Jan 11, 2023
Sulfocysteinuria1Aug 30, 2022
Supravalvar aortic stenosis1Dec 2, 2020
Syndromic X-linked intellectual disability 341Sep 1, 2021
Syndromic X-linked intellectual disability Claes-Jensen type1Jul 15, 2022
TBCE-Related Disorder1Oct 13, 2022
TBCE-Related Disorders1Sep 14, 2022
Tay-Sachs disease54Jan 11, 2023
Temtamy syndrome1Oct 13, 2022
Thrombocytopenia 14Sep 14, 2022
Thrombocytopenia 21Jul 15, 2022
Thrombotic thrombocytopenic purpura1Dec 14, 2022
Thyroid dyshormonogenesis 61Apr 24, 2019
Thyroid hormone resistance, generalized, autosomal dominant8Oct 13, 2022
Trichohepatoenteric syndrome5Dec 14, 2022
Trichothiodystrophy1Jul 1, 2020
Tuberous sclerosis syndrome5Nov 10, 2022
Turcot syndrome2Mar 6, 2020
Tyrosinase-positive oculocutaneous albinism1Sep 14, 2022
Tyrosinemia type I14Sep 14, 2022
Tyrosinemia type II2Jul 15, 2022
UDPglucose-4-epimerase deficiency2May 12, 2022
UROD-Related Disorders1Jan 11, 2023
Ullrich congenital muscular dystrophy 11Aug 30, 2022
Unverricht-Lundborg syndrome1Oct 13, 2022
Usher syndrome76Jan 11, 2023
Usher syndrome type 1F21Jan 11, 2023
Usher syndrome type 34Apr 24, 2019
Vanishing white matter disease7Dec 14, 2022
Vasculitis due to ADA2 deficiency1Dec 2, 2020
Very long chain acyl-CoA dehydrogenase deficiency34Dec 14, 2022
Vitamin D-dependent rickets, type 1A1Nov 10, 2022
Von Hippel-Lindau syndrome66Nov 10, 2022
WDR35-Related Disorders1Dec 14, 2022
Waardenburg syndrome type 2E1Aug 30, 2022
Werner syndrome4Jan 11, 2023
Wilms tumor 11Jul 15, 2022
Wilson disease165Jan 11, 2023
Wiskott-Aldrich syndrome16Jul 29, 2022
Wolfram syndrome 14Dec 14, 2022
Wolman disease5Jan 11, 2023
X-linked Alport syndrome10Jan 11, 2023
X-linked Opitz G/BBB syndrome1Jun 17, 2021
X-linked agammaglobulinemia31Dec 21, 2021
X-linked intellectual disability, Cantagrel type2Apr 19, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Jan 11, 2023
X-linked lymphoproliferative syndrome2Apr 24, 2019
X-linked severe combined immunodeficiency14Jul 29, 2022
X-linked severe congenital neutropenia1Dec 31, 2020
Xeroderma pigmentosum51Jan 11, 2023
alpha Thalassemia2Jul 29, 2022
beta Thalassemia86Dec 14, 2022
not provided2751Jan 25, 2018
not specified18522Jan 11, 2023
von Willebrand disorder17Jan 11, 2023